News

Treatment with a protein called CNF1 produced different results in two different mouse models of Rett syndrome, demonstrating a need to test therapeutic approaches across disease models, according to a study. Specifically, the CNF1 protein was able to rescue cognitive deficits, but not motor difficulties, in a mouse model…

Using a virtual avatar to guide users during attention and memory tasks significantly improves the performance of people with Rett syndrome, according to a small study from Italy. The human-like interactive agent likely acts as a social motivator for these  patients, who often focus on the face of parents and…

The lack of a working MeCP2 protein — the most common cause of Rett syndrome — skews the immune system toward a proinflammatory state in the central nervous system (CNS, brain and spinal cord), a study in mice suggests. According to its scientists, this finding helps in understanding the…

At its first virtual investor event, biotech company Centogene set a bold mission: to cure 100 rare diseases within the next decade. A leader in the field of genetic diagnostics, Centogene used the June 22 event to present its strategic priorities, outlining its plans to speed the discovery…

The use of microRNA molecules that targeted a protein receptor important for nerve cell growth led to improved behaviors and motor function in a Rett syndrome mouse model, a study shows. These molecules were carried by tiny vesicles called exosomes, which were derived from human urinary stem cells. The…

To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…

Clinical improvements with Anavex 2-73 (blarcamesine) correlated with activation of the SIGMAR1 gene, which provides instructions for making the protein targeted by the investigational Rett syndrome therapy, in a Phase 2 study. The sigma-1 receptor, or SIGMAR1, has been associated with helping nerve cells adapt to experience and injury, and…

The nonprofit Rett Syndrome Research Trust (RSRT) and Duke University’s Center for Health Measurement are asking Rett syndrome caregivers to help with a study aiming to adapt and validate a tool that could allow researchers to better understand patient responses to therapies being testing in clinical trials. The tool — called…

Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the National Organization for Rare Disorders (NORD) and set this year for June 26-27. The conference brings together patients,…

Alcyone Therapeutics, a new company focused on developing gene therapies for disorders that affect the nervous system, announced its official launch. One of its lead candidates, ACTX-101, is an investigational gene therapy for Rett syndrome now in preclinical testing with a goal of bringing into clinical trials in patients…